Myeloperoxidase deficiency
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Sign InDescription
A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
10